82386-4
2-Methylcitrate [Moles/volume] in DBS
Active
Part Descriptions
LP18136-9 2-Methylcitrate
Elevated methylcitric acid levels are indicative of an underlying metabolic disorder such as methylmalonic acidemia (MMA) and propionic acidemia (PA).
Source: Regenstrief LOINC
LP18136-9 2-Methylcitrate
2-Methylcitrate (methylcitric acid (MCA)) is measured as a second-tier assay when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen. Methylmalonic acidemia (MMA) and propionic acidemia (PA) are defects of propionate metabolism caused by deficiencies in methylmalonyl-CoA mutase and propionyl-CoA carboxylase, respectively. The clinical phenotype of both conditions includes vomiting, hypotonia, lethargy, apnea, hypothermia, and coma in the newborn period, and both MMA and PA are associated with elevated MCA and propionyl carnitine concentrations. MMA and PA can be distinguished based on methylmalonic acid concentration, which is elevated in MMA and normal in PA.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- 2-Methylcitrate
- Property
- SCnc
- Time
- Pt
- System
- Bld.dot
- Scale
- Qn
- Method
Additional Names
- Short Name
- 2Me-citrate DBS-sCnc
- Display Name
- 2-Methylcitrate (DBS) [Moles/Vol]
- Consumer Name Alpha Get Info
- 2-Methylcitrate, Dried blood spot
Basic Attributes
- Class
- CHEM
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Member of these Panels
LOINC | Long Common Name |
---|---|
100765-7 | Homocysteine and methylmalonate and methylcitrate panel - DBS |
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | 2-Metilcitrato: Synonyms: Cuantitativo |
es-MX | Spanish (Mexico) | 2-metilcitrato: |
et-EE | Estonian (Estonia) | 2-metüültsitraat: Synonyms: Aine kontsentratsioon Juhuslik Kvantitatiivne Veri |
fr-CA | French (Canada) | 2-méthylcitrate: |
fr-FR | French (France) | 2-méthylcitrate: |
fr-BE | French (Belgium) | 2-méthylcitrate: |
it-IT | Italian (Italy) | 2-Metilcitrato: Synonyms: Chimica Concentrazione di Sostanza Punto nel tempo (episodio) Sangue Spot sangue secco |
nl-NL | Dutch (Netherlands) | 2-methylcitraat: |
ru-RU | Russian (Russian Federation) | 2-Метилцитрат: Synonyms: Количественный Кровь Кровь сухая капля Молярность; |
tr-TR | Turkish (Turkey) | 2-Metilsitrat: |
zh-CN | Chinese (China) | 2-甲基柠檬酸: Synonyms: 2Me-柠檬酸; |
Example Units
Unit | Source |
---|---|
nmol/mL | Example UCUM Units |
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